LongevityMap variant

Entry Details

Longevity Association: Significant
Population: European (Danish, Finnish, South Italian and Greek)
Study Design: mtDNA sequences were analyzed in 4239 European individuals. 1292 individuals (646 ultranonagenarians and 646 controls) were selected for complete sequencing. The mtDNA subhaplogroups were determined in remaining 2947 samples (1449 ultranonagenarians and 1498 controls) to verify possible haplogroup association with longevity and the distribution pattern among European counties.
Conclusions: The distribution of H2, T2 haplogroup in female and H1, J2 in male showed differences between older subjects and younger controls, but no association was detectable when corrected for multiple test. Mitochondrial DNA variation does affect human longevity, but its effect is heavily influenced by the interaction between mutations concomitantly occurring on different mtDNA genes.

HGNC symbol: TP53
Aliases: P53; BCC7; LFS1; TRP53
Common name: tumor protein p53
Description: This gene encodes a tumor suppressor protein containing transcriptional activation, DNA binding, and oligomerization domains. The encoded protein responds to diverse cellular stresses to regulate expression of target genes, thereby inducing cell cycle arrest, apoptosis, senescence, DNA repair, or changes in metabolism. Mutations in this gene are associated with a variety of human cancers, including hereditary cancers such as Li-Fraumeni syndrome. Alternative splicing of this gene and the use of alternate promoters result in multiple transcript variants and isoforms. Additional isoforms have also been shown to result from the use of alternate translation initiation codons from identical transcript variants (PMIDs: 12032546, 20937277). [provided by RefSeq, Dec 2016]
Other longevity studies of this gene: 47
OMIM: 191170
Ensembl: ENSG00000141510
UniProt/Swiss-Prot: A0A087WT22_HUMAN
Entrez Gene: 7157
UniGene: 437460
HapMap: View on HapMap

GenAge model organism genes

GenAge human genes

CellAge

Raule et al. (2014)